Canonical Allele Identifier: CA2760767563
Gene: SOD3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800030_24800047dup , CM000666.2:g.24800030_24800047dup GRCh38
NC_000004.11:g.24801652_24801669dup , CM000666.1:g.24801652_24801669dup GRCh37
NC_000004.10:g.24410750_24410767dup NCBI36
NG_012213.1:g.9568_9585dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.509_526dup MANE Select ENSP00000371554.3:p.Gly175_Arg176insProHisSerIleValGly
ENST00000382120.3:c.509_526dup ENSP00000371554.3:p.Gly175_Arg176insProHisSerIleValGly
NM_003102.2:c.509_526dup NP_003093.2:p.Gly175_Arg176insProHisSerIleValGly
XR_427488.1:n.699_716dup
NM_003102.3:c.509_526dup NP_003093.2:p.Gly175_Arg176insProHisSerIleValGly
NM_003102.4:c.509_526dup MANE Select NP_003093.2:p.Gly175_Arg176insProHisSerIleValGly
Search 100 bp 5'
Search 100 bp 3'